Pigmentary skin disordersGene: ADAR
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ADAR; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.
Added phenotypes DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH, AICARDI-GOUTIERES SYNDROME 6; AGS6 for gene: ADAR Publications for gene ADAR were changed from to 12916015; 23001123
Source London North GLH was added to ADAR.
gene: ADAR was added gene: ADAR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ADAR were set to Dyschromatosis symmetrica hereditaria (AKA reticulate acropigmentation of Dohi)